Genomic and Epigenomic Aberrations in Esophageal Squamous Cell Carcinoma and Implications for Patients.

Genomic and Epigenomic Aberrations in Esophageal Squamous Cell Carcinoma and Implications for Patients.
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DOI:
10.1053/j.gastro.2017.06.066
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发表时间:
2018-01
期刊:
影响因子:
29.4
通讯作者:
Koeffler HP
Koeffler HP
中科院分区:
医学1区
文献类型:
--
作者:
Lin DC;Wang MR;Koeffler HP

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食管鳞状细胞癌(ESCC)是一种常见的恶性肿瘤,目前尚无有效的治疗方法。过去 4 年里,我们对 600 多个 ESCC 的外显子组进行了测序,并发现了许多关键畸变。最近,研究人员报告了肿瘤间和肿瘤内的异质性。尽管这些都是有趣的观察结果,但由于分析的样本数量有限,其临床意义尚不清楚。在 ESCC 中也观察到了表观基因组的改变,例如 DNA 甲基化、组蛋白乙酰化和 RNA 编辑的变化。然而,目前尚不清楚有多少比例的食管鳞癌细胞携带这些表观基因组畸变或它们如何促进肿瘤的发展。我们回顾了食管鳞癌的基因组和表观基因组特征,重点关注新兴主题。我们讨论它们的临床意义和未来的研究方向。
Esophageal squamous cell carcinoma (ESCC) is a common malignancy without effective therapy. The exomes of more than 600 ESCCs have been sequenced in the past 4 years, and numerous key aberrations have been identified. Recently, researchers reported both inter- and intratumor heterogeneity. Although these are interesting observations, their clinical implications are unclear due to the limited number of samples profiled. Epigenomic alterations, such as changes in DNA methylation, histone acetylation, and RNA editing, also have been observed in ESCCs. However, it is not clear what proportion of ESCC cells carry these epigenomic aberrations or how they contribute to tumor development. We review the genomic and epigenomic characteristics of ESCCs, with a focus on emerging themes. We discuss their clinical implications and future research directions.
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